2013
DOI: 10.1159/000347029
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Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism

Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Mutations in either ENG or ACVRL1 account for around 85% of cases, and 10% are large deletions and duplications. Here we present a large novel deletion in ACVRL1 gene and its molecular characterization in a 3 generation Italian family. We employed short tandem repeats (STRs) analysis, direct sequencing, multiplex ligation-dependant probe amplification (MLPA) analysis, and ‘deletion-specific' PCR methods. STRs Analysis at E… Show more

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(2 citation statements)
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“…2 Although targeted short-read sequencing of coding regions is beneficial (Table 1), deep intronic and structural variants of ACVRL1 have been reported to cause HHT. 16,17 Long-read DNA sequencing technologies can access such complex and large genomic changes and will be increasingly used as powerful molecular diagnostic tools for rare genetic diseases including HHT. 18 Early and definitive diagnosis of HHT is required to provide appropriate medical care based on established guidelines and prevent serious conditions such as paradoxical cerebral embolism after middle age, as reported in patients 8 and 10.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…2 Although targeted short-read sequencing of coding regions is beneficial (Table 1), deep intronic and structural variants of ACVRL1 have been reported to cause HHT. 16,17 Long-read DNA sequencing technologies can access such complex and large genomic changes and will be increasingly used as powerful molecular diagnostic tools for rare genetic diseases including HHT. 18 Early and definitive diagnosis of HHT is required to provide appropriate medical care based on established guidelines and prevent serious conditions such as paradoxical cerebral embolism after middle age, as reported in patients 8 and 10.…”
Section: Discussionmentioning
confidence: 99%
“…Now, the focus has shifted to how to avoid overlooking causative variants of HHT as the second most common inherited disorder worldwide 2 . Although targeted short‐read sequencing of coding regions is beneficial (Table 1), deep intronic and structural variants of ACVRL1 have been reported to cause HHT 16,17 . Long‐read DNA sequencing technologies can access such complex and large genomic changes and will be increasingly used as powerful molecular diagnostic tools for rare genetic diseases including HHT 18 .…”
Section: Discussionmentioning
confidence: 99%